ClinVar Miner

List of variants studied for hemangioma by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (36):

Aplastic anemia; Atrial septal defect; Pulmonary arterial hypertension; Hypotelorism; Hemangioma; Hepatomegaly; Abnormal pinna morphology; Downslanted palpebral fissures; Wide anterior fontanel; Low-set, posteriorly rotated ears; Dry skin; Relative macrocephaly; Lateral ventricle dilatation; Intracerebral periventricular calcifications; Aplasia of the ovary; Erythroid hypoplasia; Vaginal hydrocele
Arteriovenous malformation
Autistic behavior; Hemangioma; Eczematoid dermatitis; Macrotia; Arachnodactyly; High forehead; Intellectual disability, mild; Sandal gap; Mild global developmental delay; Narrow nasal base
Blepharophimosis; Ptosis; Hemangioma; Abnormal facial shape
Capillary hemangioma
Capillary infantile hemangioma
Capillary infantile hemangioma; Hereditary lymphedema type I; Congenital heart defects, multiple types, 7
Cavernous hemangioma
Cerebellar hemangioblastoma; Pancreatic cysts; Retinal capillary hemangioma; Spinal hemangioblastoma
Cerebral arteriovenous malformation
Cerebral arteriovenous malformation; Seizure; Hemiparesis; Cavernous hemangioma
Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation
Cerebrofacial arteriovenous metameric syndrome
Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormal nail morphology; Mitral regurgitation; Aortic regurgitation; Capillary hemangioma; 2-3 toe cutaneous syndactyly; Hypotonia; Patent ductus arteriosus
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Global developmental delay; Polymicrogyria; Macrocephaly; Capillary hemangioma
Global developmental delay; Posteriorly rotated ears; Anemia; Tapered finger; Hemangioma; Clinodactyly of the 5th finger; Delayed speech and language development; Abnormality of the dentition; Macrocephaly; Bruising susceptibility; Gastroesophageal reflux; Allergy; Heart murmur; Hypotonia; Asthma
Hemangioma
Hemangioma; Macrocephaly; Prominent occiput; 3-5 finger syndactyly; Prominent forehead; Severe global developmental delay; Hypotonia
Hepatic hemangioma
Kaposiform hemangioendothelioma; Congenital tufted angioma; Pyogenic granuloma
Low-set ears; Hemangioma; Generalized hypotonia
Pectus excavatum; Global developmental delay; Hemangioma; Synophrys; Narrow mouth; Dolichocephaly; Long eyelashes; Joint hypermobility; Frontal upsweep of hair; Narrow naris; Sydney crease; Hypotonia
Polycystic kidney disease; Hemangioma; Enlarged kidney
Primary intraosseous venous malformation
Pyogenic granuloma
Seizure; Hemangioma; Facial hemangioma
Seizure; Inguinal hernia; Hemangioma; Nephrocalcinosis; Stroke disorder
Skin hemangioma
Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangioma; Congenital talipes calcaneovalgus
Tufted angioma of skin
Vein of Galen aneurysmal malformation
Venous malformation
Verrucous hemangioma
Von Hippel-Lindau syndrome; Cerebellar hemangioblastoma; Papillary renal cell carcinoma type 1; Skin adenoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033360.4(KRAS):c.5-18A>G	rs200189105	0.00100
NM_004985.5(KRAS):c.24A>G (p.Val8=)	rs147406419	0.00025
NM_033360.4(KRAS):c.90C>T (p.Asp30=)	rs113623140	0.00011
NM_033360.4(KRAS):c.4+5G>A	rs201789109	0.00006
NM_004985.5(KRAS):c.451-5652C>T	rs727505314	0.00004
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)	rs730880473	0.00002
NM_004985.5(KRAS):c.112-9C>T	rs727504298
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)	rs1951383854
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	rs104894360
NM_033360.4(KRAS):c.101_106del	rs1339924833
NM_133171.5(ELMO2):c.1279+19del	rs76979752

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